Gene: SIX3

Alternate names for this Gene: HPE2

Gene Summary: This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: SIX homeobox 3

Type of Gene: protein-coding

Gene: SIX3-AS1

Alternate names for this Gene: SIX3OS

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: SIX3 antisense RNA 1

Type of Gene: ncRNA

rs121917878 in SIX3;SIX3-AS1 gene and HOLOPROSENCEPHALY 2 (disorder) PMID 15523651 2004 Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.

PMID 17001667 2006 SIX3 mutations with holoprosencephaly.

PMID 20531442 2010 The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

PMID 10369266 1999 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

PMID 15221788 2004 Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

PMID 18791198 2008 Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

rs387906868 in SIX3;SIX3-AS1 gene and Schizencephaly PMID 20157829 2010 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.